Genetics - Genetic Counseling

Question 1

Prenatal genetic testing options

Answer 1

Chorionic villus
Amniocentesis (most common)
PUBS

Question 2

“Quad” screen

Answer 2

AFP
hCG
Estriol
Inhibin-A

Question 3

Alpha-fetoprotein

Answer 3

Produced by the fetus

increased with neural tube defects, decreased with trisomies

Question 4

Human chorionic gonadotropin

Answer 4

Increased with trisomies

Question 5

Estriol

Answer 5

decreased with trisomies

Question 6

Inhibin-A

Answer 6

increased with trisomies

Question 7

Cell-free DNA testing

Answer 7

NIPT - blood test around 10 weeks

baseline genetic testing, tests for trisomies, may test for Turner syndrome, can detect some deletions and genetic abnormalities, helps to show gender

Question 8

Nuchal translucency

Answer 8

Ultrasound to look at nuchal found - increased fold = increased risk for T21

Question 9

DNA sequencing

Answer 9

PCR can be done to amplify the amount of DNA in order to sequence

Question 10

What should be included in a family history?

Answer 10

Gender of each individual and their relationships, ideally three gens of family, ages of each individual, diseases that may be related, and symptoms

Question 11

Gene therapy

Answer 11

introduction of gene into a cell for therapeutic effect